Rabbit anti-Human NPHP3 Polyclonal Antibody | anti-NPHP3 antibody

NPHP3, NT (NPHP3, KIAA2000, Nephrocystin-3)

Cat. Num. AAA6012881

• Gene Names: NPHP3; MKS7; NPH3; RHPD; RHPD1
• Reactivity: Human
• Applications: ELISA, Western Blot, Immunohistochemistry
• Purity: Affinity Purified; Purified by Protein A affinity chromatography.
• Synonyms: NPHP3; Polyclonal Antibody; NT (NPHP3; KIAA2000; Nephrocystin-3); Anti -NPHP3; anti-NPHP3 antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: Human
• Purity/Purification: Affinity Purified; Purified by Protein A affinity chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2, 0.09% sodium azide.

• Applicable Applications for anti-NPHP3 antibody: ELISA (EL/EIA), Western Blot (WB), Immunohistochemistry (IHC)
• Application Notes: Suitable for use in Western Blot, Immunohistochemistry, ELISA; Dilution: ELISA: 1:1,000; Western Blot: 1:100-500; Immunohistochemistry: 1:10-50
• Immunogen: NPHP3 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 151-181 amino acids from the N-terminal region of human NPHP3.
• Preparation and Storage: May be stored at 4 degree C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20 degree C. Aliquots are stable for 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Western Blot (WB)

(NPHP3 Antibody (N-term) western blot analysis in MDA-MB435 cell line lysates (35ug/lane).This demonstrates the NPHP3 antibody detected the NPHP3 protein (arrow).)

Immunohistochemistry (IHC)

(NPHP3 Antibody (N-term) immunohistochemistry analysis in formalin fixed and paraffin embedded human skeletal muscle followed by peroxidase conjugation of the secondary antibody and DAB staining.This data demonstrates the use of NPHP3 Antibody (N-term) for immunohistochemistry. Clinical relevance has not been evaluated.)

Related Product Information for anti-NPHP3 antibody

This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin and may function in renal tubular development and function. Mutations in this gene are associated with nephronophthisis type 3. Multiple splice variants have been described but their full-length nature has not been determined.

Product Categories/Family for anti-NPHP3 antibody

Antibodies; Abs to KIAA; orf

NCBI and Uniprot Product Information

• NCBI GI #: 34304360
• NCBI GeneID: 27031
• NCBI Accession #: NP_694972.3
• NCBI GenBank Nucleotide #: NM_153240.4
• UniProt Accession #: Q7Z494; Q5JPE3; Q5JPE6; Q68D99; Q6NVH3; Q7Z492; Q7Z493; Q8N9R2; Q8NCM5; Q96N70; Q96NK2
• Molecular Weight: 150,864 Da
• NCBI Official Full Name: nephrocystin-3
• NCBI Official Synonym Full Names: nephronophthisis 3 (adolescent)
• NCBI Official Symbol: NPHP3
• NCBI Official Synonym Symbols: MKS7; NPH3; RHPD; RHPD1
• NCBI Protein Information: nephrocystin-3; Meckel syndrome, type 7
• UniProt Protein Name: Nephrocystin-3
• Protein Family: Nephrocystin
• UniProt Gene Name: NPHP3
• UniProt Synonym Gene Names: KIAA2000
• UniProt Entry Name: NPHP3_HUMAN

NCBI Description

This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it functions in renal tubular development. Mutations in this gene are associated with nephronophthisis type 3, and also with renal-hepatic-pancreatic dysplasia, and Meckel syndrome type 7. Naturally occurring read-through transcripts exist between this gene and the downstream ACAD11 (acyl-CoA dehydrogenase family, member 11) gene. [provided by RefSeq, Feb 2011]

Uniprot Description

NPHP3: Required for normal ciliary development and function. Inhibits disheveled-1-induced canonical Wnt-signaling activity and may also play a role in the control of non-canonical Wnt signaling which regulates planar cell polarity. Probably acts as a molecular switch between different Wnt signaling pathways. Required for proper convergent extension cell movements. Defects in NPHP3 are the cause of nephronophthisis type 3 (NPHP3); also known as adolescent nephronophthisis. NPHP3 is a autosomal recessive disorder resulting in end-stage renal disease. It is characterized by polyuria, polydipsia, anemia. Onset of terminal renal failure occurr significantly later (median age, 19 years) than in juvenile nephronophthisis. Renal pathology is characterized by alterations of tubular basement membranes, tubular atrophy and dilation, sclerosing tubulointerstitial nephropathy, and renal cyst development predominantly at the corticomedullary junction. Defects in NPHP3 are a cause of renal-hepatic-pancreatic dysplasia (RHPD). RHPD is an autosomal recessive disorder with variable expression, and patients surviving the neonatal period progress to renal and hepatic failure which can be treated successfully with combined liver-kidney transplantation. Defects in NPHP3 are the cause of Meckel syndrome type 7 (MKS7). It is a form of Meckel syndrome, an autosomal recessive disorder. It is characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. 7 isoforms of the human protein are produced by alternative splicing.

Chromosomal Location of Human Ortholog: 3q22.1

Cellular Component: cytosol; cilium

Molecular Function: protein binding

Biological Process: Wnt receptor signaling pathway; convergent extension involved in gastrulation; organelle organization and biogenesis; photoreceptor cell maintenance; heart looping; kidney development; determination of left/right symmetry; maintenance of organ identity; lung development

Disease: Meckel Syndrome, Type 7; Renal-hepatic-pancreatic Dysplasia 1; Nephronophthisis 3